Elucidation of pathological threshold in mitochondrial disease patient-derived iPSC model.
| Project/Area Number |
16K19675
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Fujita Health University |
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Principal Investigator |
Yahata Naoki 藤田医科大学, 医学部, 助教 (60450607)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | iPS細胞 / ミトコンドリア / mtDNA / ミトコンドリアDNA / 発生・分化 / 創薬 |
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| Outline of Final Research Achievements |
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is one of the most common mitochondrial diseases caused by point mutations in mitochondrial DNA (mtDNA). We generated iPSCs from a MELAS patient having a G13513A mutation in mtDNA. To elucidate the relationship between heteroplasmy level and cellular phenotype, the level of mutant mtDNA in MELAS-iPSC was changed using originally established mtDNA-targeted Platinum TALENs, which were transported into mitochondria and preferentially cleaved mutant mtDNA. Furthermore, we tried to analyze these iPSC-derived myocytes and neurons.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では、ゲノム編集技術の一つであるTALENを用いて、mtDNA変異を有するMELAS患者由来iPS細胞における変異mtDNA比率の改変に成功した。この技術は、変異mtDNA比率と細胞表現型の関係についての詳細な解析を可能にした。さらに、本研究で作製したiPS細胞モデルを用いることで、今後ミトコンドリア病の治療法の開発に応用できると考える。
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Report
(3 results)
Research Products
(6 results)
